Evaluation of LOXL1 polymorphisms in exfoliation syndrome in Chinese population

　　陈玲 王宁利

　　首都医科大学附属北京同仁医院 100730

　　Purpose:To evaluate the association of lysyl oxidase like 1(LOXL1)gene polymorphisms in Chinese patients with exfoliation syndrome.

　　Method:Case–control study comprised of 50 unrelated patients with exfoliation syndromes and 106 control subjects was performed.Genotyping of the three SNPs of LOXL1rs1048661，rs3825942 and rs2165241 was done by direct sequencing.

　　Results:The T allele of rs1048661，G allele of rs3825942 and C allele of rs2165241were in significantly higher frequency in cases than in controls The frequencies of genotype T/T for rs1048661，G/G for rs3825942 and C/C for rs2165421 were significantly higher in cases than in controls.Haplotype TG for the two SNPs rs1048661 and rs3825942，TC for rs1048661 and rs2165241 and GC for rs3825942 and rs2165241 were overrepresented in cases.The haplotypes TGC for the three SNPs was overrepresented in cases than in controls.

　　Conclusions:NPs of LOXL1rs1048661，rs3825942 and rs2165241 were associated with exfoliation syndrome in chinese population.But different risk alleles for rs1048661 and rs2165241 were found from other populations.